Inherited Cholesterol Test

by Admera Health

What is familial hypercholesterolemia?

Familial hypercholesterolemia (FH) is an underdiagnosed hereditary condition that results in very high levels of LDL or “bad” cholesterol. Estimates suggest that 90% of people with FH are unaware they have it.

People with FH are at increased risk for early onset cardiovascular disease1 because cholesterol builds up in the arteries. If high cholesterol due to FH is left untreated, it can lead to heart disease, heart attack, stroke, and narrowing of heart valves.2

What can you do if you have FH?

Maintaining a healthy lifestyle is important, but if you have FH, you could still have very high cholesterol. That’s because FH has more to do with your genes than what you eat or how often you exercise. Treatments for FH go beyond routine cholesterol management, like not smoking cigarettes or following a low-cholesterol diet, and often include earlier use of prescription medications, like statins or cholesterol absorption inhibitors. If you are found to have a genetic variant that plays a role in FH, you should see your physician or a cardiologist to determine the treatment plan that is best for you.

Who’s at risk?

People who have a family history of high cholesterol, or heart disease, early heart attack or stroke are at an increased risk of having FH. The DNA changes that cause FH are more common in certain ethnicities, including French Canadians, Ashkenazi Jews, Lebanese people, and several South African populations.3

If you already have high levels of LDL-cholesterol and improving your diet and exercise hasn’t helped, you may benefit from learning whether you have FH. In addition to a healthy lifestyle, medications like statins are typically required to control cholesterol levels, and often at an earlier than average age.

If someone is found to have a genetic variation that causes FH, there is a 50% (or 1 in 2) chance that their parents, siblings, and children also inherited the same variation that puts them at risk for high cholesterol and heart disease. Even if someone isn’t showing any symptoms, early screening and medications are important.

What will my results tell me?

This product generates two possible results:

No variant found: No variation linked to FH was found. If you have a personal or family history of high cholesterol, you may want to consult with your physician or a genetic counselor.

Pathogenic: Likely pathogenic and pathogenic variants have very strong and definitive scientific evidence linking them with disease respectively. The result of a likely pathogenic or pathogenic FH variant in an FH gene means you have a high risk for heart disease resulting from high cholesterol. We recommend you consult with your physician or a genetic counselor.

Inherited Cholesterol Test

by Admera Health

WHAT MAKES ADMERA DIFFERENT

Detecting high cholesterol through DNA

Admera Health is uniquely positioned to provide you with personalized and medically actionable results. Driven by a mission to deliver transformative and valuable solutions to current health problems, this advanced molecular diagnostics company combines personalized medicine with digital health. In partnership with Helix, Admera is working to improve the health and well-being of the global community through products like the Inherited Cholesterol Test which assesses a person’s risk of having Familial Hypercholesterolemia (often referred to as FH).

The science

Through years of research, scientists have studied families with both low and high cholesterol to identify genes that affect how the body processes cholesterol. The research led to the discovery that variations in certain genes predispose people to high levels of LDL, or “bad” cholesterol, that can run in families. This is called familial hypercholesterolemia.

Impact

Specific genetic variants predispose you to higher cholesterol levels, but lifestyle, and other treatments also influence your cholesterol levels.

Limitations

This product does not identify all possible genes or gene variants associated with familial hypercholesterolemia.

This product does not provide risk score calculations for cholesterol levels.

This product does not check gene variants associated with lower cholesterol levels.

Our understanding and interpretation of gene variants will develop as the science evolves.

Results from this product are not intended to be used without consultation by a healthcare provider.

How it works

Because this test screens for conditions that might have serious medical implications, Admera Health provides a physician to review your health history to ensure it’s right for you before testing.

No paperwork

Answer a few questions about your health history when placing your order online. It takes just a few minutes.

No additional cost

The review of your health history adds no additional cost to your test, and insurance isn’t required.

Order and provide your health history

Physician reviews your information

Helix sends a DNA kit to your home

Provide a saliva sample and get sequenced

Get an email when your results are ready

The Helix DNA kit

To capture the information stored in your DNA so it can be used for this product, we need to collect a small, one-time saliva sample from you. This kit has everything you need to provide that sample from the comfort of your own home, and you’ll never have to provide another.

A unique Kit ID you’ll use to register your kit

Saliva collection tube, cap, and printed instructions

A small bag and prepaid box to send your saliva sample to our lab

The Helix DNA kit

To capture the information stored in your DNA so it can be used for this product, we need to collect a small, one-time saliva sample from you. This kit has everything you need to provide that sample from the comfort of your own home, and you’ll never have to provide another.

A unique Kit ID you’ll use to register your kit

Questions

What genes does this product check?

The Inherited Cholesterol Test checks for four genes linked to familial hypercholesterolemia: LDLR, APOB, PCSK9, and LDLRAP1. However, it does not check all gene variants linked to FH. For example, within the LDLR gene, this product will not be able to check for certain types of genetic variations that are known to cause FH. These are known as copy number variants (CNVs) or large rearrangements. These variants account for a small number of cases. Some people who use the Inherited Cholesterol Test and are not found to have a variant may still benefit from additional testing for FH, especially if they have a strong family history of high cholesterol.

Does this product check for variants of unknown significance (VUSs)?

We all have unique variations in our DNA, and some are well known but many are just being discovered. There may be variants found in your DNA that haven’t yet been categorized. Some may be responsible for the condition, while others may just be a normal version of the gene that scientists simply haven’t seen before. We refer to these as “variants of unknown significance,” or VUSs. For these products, VUSs are not reported since we do not have enough evidence to know which variant(s) will increase risk for FH. As our understanding of VUSs improve over time, this product may become more comprehensive as we learn which VUSs do and do not increase risk for FH.

Can I choose my own physician to approve testing?

No. When you order the Inherited Cholesterol Test, you answer relevant health history questions. Helix will share your contact information and health history with Admera Health so a physician from an independent provider network can review and make sure this product is right for you. This process helps make sure you get access to these insights quickly and efficiently through a provider that is familiar with this type of testing. You can always share your results with your healthcare providers.

Do I need access to my medical records to answer the health history questions?

While it might help to have your records handy, it’s definitely not required. It’s okay to answer the health history questions from memory to the best of your ability.

Can I use my health insurance benefits to purchase this product?

Unfortunately, no. This is an at-home test that doesn’t require an office visit, and we cannot currently accept payment from insurance providers.

Will someone be available to help me understand my results?

While your results will be delivered to you in an easy-to-understand format, Admera Health knows that you may have questions. That’s why Admera makes available, through an independent provider network, genetic counselors who can help you understand what your results mean for you and your family. We also encourage you to share your results with your physician if you have any specific questions or concerns.

Do I have to get sequenced to use this product?

Yes. In order to use the Inherited Cholesterol Test, you need to be sequenced by Helix. To ensure the quality and accuracy of the genetic information used for this service, products in the Helix marketplace do not accept genetic data from outside sources.

How does Helix provide my DNA information to Admera Health? Is it shared with anyone else?

Your DNA information is stored securely by Helix. When sequencing is complete, Helix only sends the relevant DNA information needed by Admera Health to generate your results. We do not share your DNA information with anyone without your permission. We always maintain the highest standards when it comes to the security and privacy of your DNA information.

About Admera Health

Admera Health is a CLIA-certified and CAP-accredited advanced molecular diagnostics company focused on personalized medicine and digital health. It’s Admera’s mission to deliver transformative, valuable solutions for patients, physicians, and clinical researchers. Admera Health is committed to improving the health and well-being of the global community through the direct delivery of personalized, medically actionable results.

About Helix

Helix empowers everyone to explore what makes them unique—their DNA.

From health and wellness insights to family planning and ancestry information, Helix’s growing list of partners can tap into your genetic profile to provide relevant insights for today, tomorrow and years to come.

Why do I need the Helix DNA kit?

Products on Helix use the DNA information found in your saliva to give you insights into what makes you, you. The Helix DNA kit has everything you need to provide a saliva sample and send it to our lab so we can sequence your DNA.

Once you’re sequenced, you can gain insights from any product on Helix for years to come—all without having to provide another saliva sample ever again.